Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population.
delta beta-Thalassemia (delta beta-thal) and hereditary persistence of fetal hemoglobin (HPFH) are heterogeneous disorders characterized by elevated levels of Hb F in adult life. The two disorders should not be considered as unambiguously separate entities but rather as a group of disorders with a variety of partially overlapping phenotypes. This study was undertaken to determine the hematological and molecular characteristics of high Hb F determinants among Indians. A gap-polymerase chain reaction (gap-PCR)-based approach was used for molecular characterization of high Hb F phenotypes. Fifty-five unrelated individuals were studied. The molecular findings were correlated with the hematological data. DNA analysis identified the deletion-inversion (G)gamma((A)gamma delta beta)(0)-thal in 15 cases (27%) and the HPFH-3 (Indian deletion) determinant in 26 cases (47.2%) and the Vietnamese/Chinese determinant (27 kb deletion) in five cases (9%), which is being reported for the first time from India; 16% (nine cases) of the samples remained uncharacterized. This study emphasizes that delta beta-thal and HPFH determinants are common in India. Molecular analysis will aid in understanding genotype-phenotype correlations and will facilitate prevention and control programs of thalassemia and hemoglobinopathies in this region.
Nadkarni
Anita
A
Institute of Immunohaematology, Indian Council of Medical Research (ICMR), Mumbai, India.
Wadia
Marukh
M
Gorakshakar
Ajit
A
Kiyama
Ryoiti
R
Colah
Roshan B
RB
Mohanty
Dipika
D
D000293:Adolescent; D000328:Adult; D005319:Fetal Hemoglobin / Q000032:analysis / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008875:Middle Aged; D055815:Young Adult; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics; D055538:delta-Thalassemia / Q000453:epidemiology* / Q000235:genetics
D005319:Fetal Hemoglobin